Incidental Mutation 'R1236:Kbtbd7'
ID |
152443 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kbtbd7
|
Ensembl Gene |
ENSMUSG00000043881 |
Gene Name |
kelch repeat and BTB (POZ) domain containing 7 |
Synonyms |
1110008P08Rik, LOC211255 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R1236 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
79663951-79668476 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 79665272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 368
(C368F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022600]
[ENSMUST00000061222]
|
AlphaFold |
G5E8C2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022600
|
SMART Domains |
Protein: ENSMUSP00000022600 Gene: ENSMUSG00000022022
Domain | Start | End | E-Value | Type |
low complexity region
|
104 |
119 |
N/A |
INTRINSIC |
low complexity region
|
122 |
133 |
N/A |
INTRINSIC |
PCRF
|
139 |
255 |
5.96e-27 |
SMART |
Pfam:RF-1
|
290 |
400 |
2.6e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061222
AA Change: C368F
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000060768 Gene: ENSMUSG00000043881 AA Change: C368F
Domain | Start | End | E-Value | Type |
Blast:BTB
|
11 |
44 |
2e-11 |
BLAST |
BTB
|
63 |
168 |
1.05e-23 |
SMART |
BACK
|
173 |
279 |
1.41e-19 |
SMART |
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
Pfam:Kelch_1
|
434 |
481 |
1.7e-9 |
PFAM |
low complexity region
|
657 |
676 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
C |
2: 30,685,756 (GRCm39) |
Y360C |
probably damaging |
Het |
Afap1l2 |
T |
A |
19: 56,904,904 (GRCm39) |
H566L |
possibly damaging |
Het |
Aqr |
G |
T |
2: 113,947,136 (GRCm39) |
F1015L |
probably damaging |
Het |
Cep112 |
T |
A |
11: 108,750,200 (GRCm39) |
L901H |
probably damaging |
Het |
Col26a1 |
A |
G |
5: 136,783,780 (GRCm39) |
V229A |
probably benign |
Het |
Cyp4a14 |
T |
C |
4: 115,349,367 (GRCm39) |
N231S |
probably benign |
Het |
Dmac2l |
T |
C |
12: 69,788,592 (GRCm39) |
|
probably null |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm37240 |
T |
A |
3: 84,435,003 (GRCm39) |
N13I |
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,444,020 (GRCm39) |
D418G |
probably benign |
Het |
Lpcat2 |
A |
G |
8: 93,613,197 (GRCm39) |
M246V |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,319,242 (GRCm39) |
W31R |
probably damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Npepl1 |
T |
A |
2: 173,956,273 (GRCm39) |
|
probably null |
Het |
Or6c212 |
A |
G |
10: 129,558,675 (GRCm39) |
V246A |
probably damaging |
Het |
Or8b1 |
T |
C |
9: 38,399,525 (GRCm39) |
S67P |
probably damaging |
Het |
P4ha3 |
T |
C |
7: 99,943,056 (GRCm39) |
L147P |
probably damaging |
Het |
Pkp2 |
C |
A |
16: 16,043,766 (GRCm39) |
H173Q |
probably benign |
Het |
Prlr |
C |
A |
15: 10,325,367 (GRCm39) |
T180K |
probably benign |
Het |
Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
Rufy2 |
A |
G |
10: 62,830,549 (GRCm39) |
N217S |
probably benign |
Het |
Sgcg |
T |
C |
14: 61,483,219 (GRCm39) |
M61V |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spint1 |
A |
G |
2: 119,076,054 (GRCm39) |
T217A |
probably benign |
Het |
Tert |
T |
C |
13: 73,784,498 (GRCm39) |
L648P |
probably damaging |
Het |
Vwde |
A |
T |
6: 13,187,152 (GRCm39) |
Y778* |
probably null |
Het |
Zeb2 |
T |
A |
2: 44,884,658 (GRCm39) |
D967V |
probably damaging |
Het |
Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
Zscan26 |
T |
C |
13: 21,629,940 (GRCm39) |
M188V |
probably benign |
Het |
|
Other mutations in Kbtbd7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01123:Kbtbd7
|
APN |
14 |
79,666,052 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01364:Kbtbd7
|
APN |
14 |
79,665,486 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0973:Kbtbd7
|
UTSW |
14 |
79,664,870 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0973:Kbtbd7
|
UTSW |
14 |
79,664,870 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0974:Kbtbd7
|
UTSW |
14 |
79,664,870 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2909:Kbtbd7
|
UTSW |
14 |
79,665,922 (GRCm39) |
missense |
probably benign |
0.16 |
R4731:Kbtbd7
|
UTSW |
14 |
79,666,240 (GRCm39) |
makesense |
probably null |
|
R4732:Kbtbd7
|
UTSW |
14 |
79,666,240 (GRCm39) |
makesense |
probably null |
|
R4733:Kbtbd7
|
UTSW |
14 |
79,666,240 (GRCm39) |
makesense |
probably null |
|
R4984:Kbtbd7
|
UTSW |
14 |
79,664,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R5712:Kbtbd7
|
UTSW |
14 |
79,666,205 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6699:Kbtbd7
|
UTSW |
14 |
79,665,632 (GRCm39) |
missense |
probably benign |
0.31 |
R7122:Kbtbd7
|
UTSW |
14 |
79,665,757 (GRCm39) |
missense |
probably damaging |
0.98 |
R7176:Kbtbd7
|
UTSW |
14 |
79,665,194 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7457:Kbtbd7
|
UTSW |
14 |
79,665,364 (GRCm39) |
frame shift |
probably null |
|
R7875:Kbtbd7
|
UTSW |
14 |
79,664,806 (GRCm39) |
missense |
probably benign |
0.04 |
R8041:Kbtbd7
|
UTSW |
14 |
79,666,144 (GRCm39) |
missense |
probably benign |
0.43 |
R9435:Kbtbd7
|
UTSW |
14 |
79,664,944 (GRCm39) |
missense |
probably benign |
0.45 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCTACTGAGCAAGCCTATTGTG -3'
(R):5'- GCTGATGCCAACTATTTTGGGCTG -3'
Sequencing Primer
(F):5'- ACTGCCTGGACATTATTGAAGG -3'
(R):5'- GGGCTGGTTTATACACCCATAG -3'
|
Posted On |
2014-01-29 |